Case of the Week #610
(1) Femicare, Center of prenatal ultrasonographic diagnostics, Martin, Slovakia; (2) UT Southwestern Medical Center, Plano, Texas, United States of America.
A 32-year-old primigravida presented to our office at 19w 2d for a second-trimester ultrasound examination. The following anomalies were seen:
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Answer
We present a case of Tetralogy of Fallot with Absent Pulmonary Valve Syndrome.
Our examination revealed the following findings:
- left axis deviation of the heart;
- ventricular septal defect with overriding aorta;
- large main pulmonary artery with turbulent high velocity flow and marked dilatation of the right and left pulmonary arteries;
- absent ductus arteriosus.
The patient was sent to the National Institute for Cardiovascular Diseases (Bratislava, Slovak Republic) where the diagnosis was confirmed. The parents opted for termination of the pregnancy.
Discussion
Absent pulmonary valve syndrome (APVS), also referred to as tetralogy of Fallot (TOF) with absent pulmonary valve, is a rare cardiac malformation. It accounts for 3 to 6% of all patients with TOF and for 0.2 to 0.4% of live-born infants with congenital heart disease. APVS is characterized by absent, rudimentary, or dysplastic pulmonary valve leaflets associated with an outlet ventricular septal defect (VSD) and an overriding aorta. In most cases, APVS is associated with an absent ductus arteriosus. The main, right and left pulmonary arteries become severely dilated, while the main pulmonary valve annulus shows signs of stenosis with severe insufficiency. The aneurysmal dilation of the pulmonary artery is a pathognomonic sign of APVS.
The four-chamber view may appear normal but may already show a dilated right ventricle, especially in late gestation due to volume overload from the insufficient pulmonary valve. The left ventricular outflow tract view demonstrates the malaligned VSD with the overriding aorta. The aortic root is not dilated in APVS, conversely to the classic TOF. The three-vessel-trachea view demonstrates massively dilated main, right and left pulmonary arteries. The ductus arteriosus is not found, as in most cases of APVS.
High velocities across the pulmonary valve annulus with to-and-fro flow are a sign of stenosis and insufficiency, and are characteristic findings on color and pulsed wave Doppler. On spectral Doppler evaluation, velocities around 250 to 300 cm/s are generally obtained across the main pulmonary artery valve in late gestation. Color Doppler may also show tricuspid valve regurgitation.
Associated cardiac findings include right aortic arch and absent ductus arteriosus. Extracardiac findings include a high association with chromosomal anomalies, primarily DiGeorge Syndrome. The APVS variant with a patent ductus arteriosus is rarely associated with chromosomal or extracardiac abnormalities. Bronchomalacia, due to bronchial compression by the dilated pulmonary trunk, is a common and serious association with APVS. However, this condition cannot be diagnosed prenatally.
APVS is associated with a poor prognosis and survival rates between 15 to 30% have been reported in some series. Findings that suggest a poor prognosis include cardiomegaly and marked pulmonary dilation.
Reference
Abuhamad, A, et al. "Absent Pulmonary Valve Syndrome". A Practical Guide to Fetal Echocardiography: Normal and Abnormal Hearts (4th edition). Singapore: Wolters Kluwer, 2022. pgs 439-447.
Discussion Board
Winners
Zhanna Bondarchuk Ukraine Physician
Dianna Heidinger United States Sonographer
Javier Cortejoso Spain Physician
paola quaresima Italy Physician
Pawel Swietlicki Poland Physician
Kristína Bihariová Slovakia Physician
Igor Yarchuk United States Sonographer
Andrii Averianov Ukraine Physician
Ana Ferrero Spain Physician
Alexandr Krasnov Ukraine Physician
Carlos Orellana Venezuela Physician
Mayank Chowdhury India Physician
Shilpen Gondalia India Physician
Ivan Ivanov Russian Federation Physician
Boujemaa Oueslati Tunisia Physician
Tatiana Koipish Belarus Physician
CHARLES SARGOUNAME India Physician
Aysegul Ozel Turkey Physician
Karoline Reich Germany Physician
Caroline Reichert Garcia Brazil Physician
Olivia Ionescu United Kingdom Physician
Marianovella Narcisi Italy Physician
Crismaru Iulia Romania Physician
Annette Reuss Germany Physician
Amparo Gimeno Spain Physician
Muradiye Yıldırım Turkey Physician
Yasemin Dogan Turkey Physician
ALBANA CEREKJA Italy Physician
Deval Shah India Physician
SAMUEL GELVEZ TELLEZ Colombia Physician
Murat Cagan Turkey Physician
Büşra Cambaztepe Turkey Physician
gholamreza azizi Iran, Islamic Republic of Physician
Ionut Valcea Romania Physician
Sviatlana Akhramovich Belarus Physician
reyhan ayaz Turkey Physician
Đặng Mai Quỳnh Viet Nam Physician
Halil Korkut Dağlar United States Physician
Hien Nguyen Van Viet Nam Physician
Zuzana Briešková Slovakia Physician
abdullah sarıyıldırım Turkey Physician
Ann-Christin Dr. Sönnichsen Germany Physician
Tina Wade United States Sonographer
Arati Appinabhavi India Physician
shruti Agarwal India Physician
Jay Vaishnav India Physician
DERYA UYAN HENDEM Turkey Physician
Manjula Budidapadu India Physician
SAVITA SHIRODKAR India Physician
Sruthi Pydi India Physician
Laura Wharton United Kingdom Physician
zozo sichala Zambia radiology technologist
Rupal Sasani India Physician
SHILPA KISHORE India Physician
Claudio Luna Venezuela Physician
izabela dera Germany Physician
Petra Barboríková Slovakia Physician
Carmen de Luis Rodríguez Spain Physician
Denys Saitarly Israel Physician
Tetiana Ishchenko Ukraine Physician
Costin Radu Lucian Romania Physician
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Sheetal Dadhe India Physician
Le Duc Viet Nam Physician
Chelsea Brlansky United States Sonographer
PADMA Priya DHARSHINI India Physician
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Hana Habanova Slovakia Physician
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Marius Bogdan Muresan Romania Physician
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Mustafa Latif Ali Sweden Physician
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Umesh Athavale India Physician
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li zi China Physician